edoc

Size fractionation of cell-free DNA in maternal plasma improves the detection of a paternally inherited beta-thalassemia point mutation by MALDI-TOF mass spectrometry

Li, Ying and Di Naro, Edoardo and Vitucci, Angeloantonio and Grill, Simon and Zhong, Xiao Yan and Holzgreve, Wolfgang and Hahn, Sinuhe. (2009) Size fractionation of cell-free DNA in maternal plasma improves the detection of a paternally inherited beta-thalassemia point mutation by MALDI-TOF mass spectrometry. Fetal diagnosis and therapy, 25 (2). pp. 246-249.

[img]
Preview
PDF - Published Version
142Kb

Official URL: http://edoc.unibas.ch/dok/A6004614

Downloads: Statistics Overview

Abstract

OBJECTIVES: The selective enrichment of cell-free fetal DNA in maternal plasma by size fractionation leads to the improved detection of paternally inherited fetal point mutations when using conventional, real-time PCR, or as has more recently been shown by MALDI-TOF mass spectrometry. We have now examined the use of size fractionation in conjunction with mass spectrometry for the detection of a paternally inherited codon 39 mutation of the beta-globin gene. METHODS: Maternal plasma was obtained from an early second trimester pregnancy at risk for beta-thalassemia, where the father carried the codon 39 mutation and the mother was a carrier for the IVSI-110 mutation of the beta-globin gene. Cell-free DNA was analyzed by mutation-specific PCR and MALDI-TOF mass spectrometry for the presence of the codon 39 mutation. A comparison was made between total cell-free DNA and that which had been enriched for a size of 100-300 bp. RESULTS: The paternally inherited codon 39 mutant allele was detectable in both cell-free DNA preparations, but the signal was much more pronounced and precise in the size-fractionated sample. CONCLUSIONS: Size fractionation of cell-free DNA may lead to the improved non-invasive detection of fetal point mutations for beta-thalassemia by MALDI-TOF mass spectrometry.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Former Units at DBM > Gynecological Oncology (Zhong)
UniBasel Contributors:Zhong, Xiao Yan
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Karger
ISSN:1015-3837
e-ISSN:1421-9964
Note:Publication type according to Uni Basel Research Database: Journal article
Language:English
Related URLs:
Identification Number:
Last Modified:24 Oct 2017 09:44
Deposited On:01 Mar 2013 11:11

Repository Staff Only: item control page